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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2348115854
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6786579_6786586delinsATGTAAGC , CM000682.2:g.6786579_6786586delinsATGTAAGC
GRCh38
NC_000020.10:g.6767226_6767233delinsATGTAAGC , CM000682.1:g.6767226_6767233delinsATGTAAGC
GRCh37
NC_000020.9:g.6715226_6715233delinsATGTAAGC
NCBI36
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Search 100 bp 3'